-
2
-
-
9044222886
-
A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
-
Laporte J, Hu LJ, Kretz C, et al. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast. Nat Genet 1996;13:175-182.
-
(1996)
Nat Genet
, vol.13
, pp. 175-182
-
-
Laporte, J.1
Hu, L.J.2
Kretz, C.3
-
3
-
-
0028969635
-
Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X-inactivation assigns the MTM1 gene to a 600-kb region
-
Dahl N., Hu L.J., Chery M., Fardeau M., et al. Myotubular myopathy in a girl with a deletion at Xq27-q28 and unbalanced X-inactivation assigns the MTM1 gene to a 600-kb region. Am J Hum Genet 1995, 56:1108-1115.
-
(1995)
Am J Hum Genet
, vol.56
, pp. 1108-1115
-
-
Dahl, N.1
Hu, L.J.2
Chery, M.3
Fardeau, M.4
-
4
-
-
0037461284
-
X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation
-
Schara U., Kress W., Tücke J., et al. X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation. Neurology 2003, 60(8):1363-1365.
-
(2003)
Neurology
, vol.60
, Issue.8
, pp. 1363-1365
-
-
Schara, U.1
Kress, W.2
Tücke, J.3
-
5
-
-
33750438495
-
Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1
-
Hoffjan S., Thiels C., Vorgerd M., et al. Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1. Neuromuscul Disord 2006, 16:749-753.
-
(2006)
Neuromuscul Disord
, vol.16
, pp. 749-753
-
-
Hoffjan, S.1
Thiels, C.2
Vorgerd, M.3
-
6
-
-
0037211687
-
Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation
-
Jungbluth H., Sewry C.A., Buj-Bello A., et al. Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation. Neuromuscul Disord 2003, 13(1):55-59.
-
(2003)
Neuromuscul Disord
, vol.13
, Issue.1
, pp. 55-59
-
-
Jungbluth, H.1
Sewry, C.A.2
Buj-Bello, A.3
-
7
-
-
27644543614
-
Mutations in dynamin 2 cause dominant centronuclear myopathy
-
Bitoun M., Maugenre S., Jeannet P.Y., et al. Mutations in dynamin 2 cause dominant centronuclear myopathy. Nat Genet 2005, 37(11):1207-1209.
-
(2005)
Nat Genet
, vol.37
, Issue.11
, pp. 1207-1209
-
-
Bitoun, M.1
Maugenre, S.2
Jeannet, P.Y.3
-
8
-
-
34548341774
-
Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy
-
Nicot A.S., Toussaint A., Tosch V., et al. Mutations in amphiphysin 2 (BIN1) disrupt interaction with dynamin 2 and cause autosomal recessive centronuclear myopathy. Nat Genet 2007, 39(9):1134-1139.
-
(2007)
Nat Genet
, vol.39
, Issue.9
, pp. 1134-1139
-
-
Nicot, A.S.1
Toussaint, A.2
Tosch, V.3
-
9
-
-
34047270223
-
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
-
Jungbluth H., Zhou H., Sewry C.A., et al. Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene. Neuromuscul Disord 2007, 17(4):338-345.
-
(2007)
Neuromuscul Disord
, vol.17
, Issue.4
, pp. 338-345
-
-
Jungbluth, H.1
Zhou, H.2
Sewry, C.A.3
-
10
-
-
78249290502
-
RYR1 mutations are a common cause of congenital myopathies with central nuclei
-
Wilmshurst J.M., Lillis S., Zhou H., et al. RYR1 mutations are a common cause of congenital myopathies with central nuclei. Ann Neurol 2010, 68(5):717-726.
-
(2010)
Ann Neurol
, vol.68
, Issue.5
, pp. 717-726
-
-
Wilmshurst, J.M.1
Lillis, S.2
Zhou, H.3
-
11
-
-
33750219395
-
A novel PtdIns3Pand PtdIns(3, 5)P2 phosphatase with an inactivating variant in centronuclear myopathy
-
Tosch V., Rohde H.M., Tronchère H., et al. A novel PtdIns3Pand PtdIns(3, 5)P2 phosphatase with an inactivating variant in centronuclear myopathy. Hum Mol Genet 2006, 15(21):3098-3106.
-
(2006)
Hum Mol Genet
, vol.15
, Issue.21
, pp. 3098-3106
-
-
Tosch, V.1
Rohde, H.M.2
Tronchère, H.3
-
12
-
-
77950930695
-
Centronuclear myopathies: A widening concept
-
Romero NP. Centronuclear myopathies: A widening concept. Neuromuscul Disord 2010;20:223-228.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 223-228
-
-
Romero, N.P.1
-
14
-
-
42449105304
-
Neurophysiological strategies for the diagnosis of disorders of the neuromuscular junction in children
-
Pitt M. Neurophysiological strategies for the diagnosis of disorders of the neuromuscular junction in children. Dev Med Child Neurol 2008, 50:328-333.
-
(2008)
Dev Med Child Neurol
, vol.50
, pp. 328-333
-
-
Pitt, M.1
-
15
-
-
61449203897
-
Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy
-
Epub 2009 Feb 6
-
Dowling JJ, Vreede AP, Low SE, et al. Loss of myotubularin function results in T-tubule disorganization in zebrafish and human myotubular myopathy. PLoS Genet 2009; 5(2):e1000372. Epub 2009 Feb 6.
-
(2009)
PLoS Genet
, vol.5
, Issue.2
-
-
Dowling, J.J.1
Vreede, A.P.2
Low, S.E.3
-
16
-
-
78650169783
-
Sporadic centronuclear myopathy with muscle pseudohypertrophy, neurtopenia and necklace fibres due to a DNM2 mutation
-
Liewluck T., Lovell T.L., Bite A.V., et al. Sporadic centronuclear myopathy with muscle pseudohypertrophy, neurtopenia and necklace fibres due to a DNM2 mutation. Neuromuscul Disord 2010, 20:801-804.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 801-804
-
-
Liewluck, T.1
Lovell, T.L.2
Bite, A.V.3
-
17
-
-
0036164239
-
Acetylcholinesterase is required for neuronal and muscular development in the zebrafish embryo
-
Behra M., Cousin X., Bertrand C., et al. Acetylcholinesterase is required for neuronal and muscular development in the zebrafish embryo. Nat Neurosci 2002, 5(2):111-118.
-
(2002)
Nat Neurosci
, vol.5
, Issue.2
, pp. 111-118
-
-
Behra, M.1
Cousin, X.2
Bertrand, C.3
-
18
-
-
51649123667
-
Congenital myasthenic syndromes in childhood: diagnostic and management challenges
-
Kinali M., Beeson D., Pitt M.C., et al. Congenital myasthenic syndromes in childhood: diagnostic and management challenges. J Neuroimmunol 2008, 201-202:6-12.
-
(2008)
J Neuroimmunol
, pp. 6-12
-
-
Kinali, M.1
Beeson, D.2
Pitt, M.C.3
-
19
-
-
34250881487
-
Clinical features of theDOK7 neuromuscular junction synaptopathy
-
Palace J., Lashley D., Newsom Davis J., et al. Clinical features of theDOK7 neuromuscular junction synaptopathy. Brain 2007, 130:1507-1515.
-
(2007)
Brain
, vol.130
, pp. 1507-1515
-
-
Palace, J.1
Lashley, D.2
Newsom Davis, J.3
-
20
-
-
34250880117
-
Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes Brain
-
Muller JS, Herczegfalvi A, Vilchez JJ, et al. Phenotypical spectrum of DOK7 mutations in congenital myasthenic syndromes Brain; 2007;130:1497-1506.
-
(2007)
, vol.130
, pp. 1497-1506
-
-
Muller, J.S.1
Herczegfalvi, A.2
Vilchez, J.J.3
-
21
-
-
0016631184
-
Single fibre electromyography in various processes affecting the anterior horn cell
-
Stalberg E., Schwartz M.S., Trontelj J.V. Single fibre electromyography in various processes affecting the anterior horn cell. J Neurol Sci 1975, 24(4):403-415.
-
(1975)
J Neurol Sci
, vol.24
, Issue.4
, pp. 403-415
-
-
Stalberg, E.1
Schwartz, M.S.2
Trontelj, J.V.3
-
22
-
-
0025004199
-
Use of single fiber EMG and macro EMG in study of reinnervation
-
Stalberg E. Use of single fiber EMG and macro EMG in study of reinnervation. Muscle Nerve 1990, 13(9):804-813.
-
(1990)
Muscle Nerve
, vol.13
, Issue.9
, pp. 804-813
-
-
Stalberg, E.1
-
24
-
-
78650200464
-
Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia
-
Munot P., Lashley D., Jungbluth H., et al. Congenital fibre type disproportion associated with mutations in the tropomyosin 3 (TPM3) gene mimicking congenital myasthenia. Neuromuscul Disord 2010, 20:796-800.
-
(2010)
Neuromuscul Disord
, vol.20
, pp. 796-800
-
-
Munot, P.1
Lashley, D.2
Jungbluth, H.3
-
25
-
-
0029023971
-
The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant and autosomal recessive forms and present state of DNA studies
-
Wallgren-Pettersson C, Clarke A, Samson F, et al. The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant and autosomal recessive forms and present state of DNA studies. J.Med.Genet 1995;32(9):673-679.
-
(1995)
J.Med.Genet
, vol.32
, Issue.9
, pp. 673-679
-
-
Wallgren-Pettersson, C.1
Clarke, A.2
Samson, F.3
-
26
-
-
2442535249
-
118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands (5th Workshop of the International Consortium on Myotubular Myopathy)
-
Bertini E., Biancalana V., Bolino A., et al. 118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands (5th Workshop of the International Consortium on Myotubular Myopathy). Neuromuscul Disord 2004, 14(6):387-396.
-
(2004)
Neuromuscul Disord
, vol.14
, Issue.6
, pp. 387-396
-
-
Bertini, E.1
Biancalana, V.2
Bolino, A.3
-
27
-
-
0028200113
-
Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy
-
Fidzianska A, Goebel HH. Aberrant arrested in maturation neuromuscular junctions in centronuclear myopathy. J Neurol Sci 1994;124(1):83-88.
-
(1994)
J Neurol Sci
, vol.124
, Issue.1
, pp. 83-88
-
-
Fidzianska, A.1
Goebel, H.H.2
-
28
-
-
47649106149
-
Endosomal phosphoinositides and human diseases
-
Nicot A.S., Laporte J. Endosomal phosphoinositides and human diseases. Traffic 2008, 9:1240-1249.
-
(2008)
Traffic
, vol.9
, pp. 1240-1249
-
-
Nicot, A.S.1
Laporte, J.2
-
29
-
-
46249131516
-
Nicotinic acetylcholine receptor is internalized via a Rac-dependent, dynamin-independent endocytic pathway
-
Kumari S., Borroni V., Chaudhry A., et al. Nicotinic acetylcholine receptor is internalized via a Rac-dependent, dynamin-independent endocytic pathway. J Cell Biol 2008, 181(7):1179-1193.
-
(2008)
J Cell Biol
, vol.181
, Issue.7
, pp. 1179-1193
-
-
Kumari, S.1
Borroni, V.2
Chaudhry, A.3
|